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Hereditary haemochromatosis 

Hereditary haemochromatosis
Hereditary haemochromatosis

William J. H. Griffiths

and T. M. Cox



Genetics and molecular biology – description of pathways that influence hepcidin synthesis within hepatocytes, with implications for novel molecular therapies.

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date: 19 September 2021

Haemochromatosis is a hereditary disorder generally caused by inappropriate absorption of iron by the small intestine which leads to iron deposition in the viscera, endocrine organs, and other sites, causing structural injury and impaired function. The most common form is classical adult haemochromatosis, but juvenile and neonatal forms are recognized, and several other genetic syndromes associated with iron storage have been identified; these may rarely involve specific tissues selectively, such as the lens of the eye or basal ganglia of the brain, or a characteristic range of tissues including the liver, heart, and endocrine system. Early-onset (juvenile) haemochromatosis has a predilection for the heart, pituitary gonadotrophs and the pancreatic islet—thus myocardial disease (which may be fatal if untreated), hypogonadism and diabetes mellitus are prominent features. Prompt diagnosis and depletion of tissue iron by chelating agents—and venesection where possible—may be life-saving. Unravelling the molecular genetics of haemochromatosis is underpinning promising new therapies for disorders of iron homeostasis....

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